Huda Zoghbi

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Huda Yahya Zoghbi
Canada Gairdner International Award (2017)
Breakthrough Prize in Life Sciences (2017)
Brain Prize (2020)
Scientific career
FieldsGenetics
Neuroscience
InstitutionsRegeneron Pharmaceuticals[1]
Baylor College of Medicine
Howard Hughes Medical Institute
Texas Children's Hospital

Huda Yahya Zoghbi (

Arabic: هدى الهبري الزغبي Hudā al-Hibrī az-Zughbī; born 1954), born Huda El-Hibri,[3] is a Lebanese-born American geneticist, and a professor at the Departments of Molecular and Human Genetics, Neuroscience and Neurology at the Baylor College of Medicine. She is the director of the Jan and Dan Duncan Neurological Research Institute.[5][6]
She became the editor of the Annual Review of Neuroscience as of 2018.[7]

Her work helped elucidate the genes and genetic mechanisms responsible for a number of devastating neurological disorders, such as

autism and intellectual disability, which could lead to new therapeutics and better, more efficient treatments.[9][10]

In 2017, she was awarded the

.

Early life and education

Huda Zoghbi was born in

biological sciences major at the American University of Beirut (AUB) in 1973 and entered the university's medical school 2 years later.[11]

The Lebanese Civil War began in 1976 during her first year of medical school. Although she and her classmates decided to stay at the university, after her brother was injured by shrapnel, their parents sent them to live with their sister in Austin, Texas, with plans to return the following summer.[11][13] The war, however, raged on, and Zoghbi was under the impression that school terms at American medical schools began in October, as was the case with Lebanese schools. However, in October, it was confirmed that she was still unable to return to Lebanon due to the war, and US medical schools had begun their fall term 2 months earlier. Her family friends in America suggested she apply to Vanderbilt University. Vanderbilt did not accept transfer students, but recommended Meharry Medical College instead; Meharry accepted her on the spot.[13] Despite her continued desire to return to Lebanon the next summer, on the advice of professors at AUB, she stayed at Meharry and earned an MD degree in 1979, after which she joined the Texas Children's Hospital at the Baylor College of Medicine as a pediatric resident.[11]

Zoghbi initially intended to specialise in pediatric cardiology, out of an interest in the heart. During her rotation at pediatric neurology, Marvin Fishman, the head of the division, convinced her that the brain was more interesting than the heart. She thus started a 3-year term as a postdoctoral researcher in pediatric neurology after she finished her residency in 1982.

Career

Huda Zoghbi, Kavli Prize Laureate, interviews at Munch Museum, Oslo, Norway. Photo: Thomas Eckhoff

From 1982 to 1985, Zoghbi was a postdoctoral researcher in pediatric neurology at the Baylor College of Medicine. She became an assistant professor at the Department of Pediatrics at Baylor in 1988, and was successively promoted to associate professor in 1991 and professor in 1994.[14] At present, Zoghbi is a professor at the Department of Molecular and Human Genetics at Baylor, with appointments as a professor at the Department of Neuroscience and the Department of Pediatrics Section of Neurology and Developmental Neuroscience, the Ralph Feigin, M.D. Endowed Chair, the director of the Texas Children's Hospital Jan and Dan Duncan Neurological Research Institute, a member of the Dan L. Duncan Comprehensive Cancer Center at Baylor, and an investigator at the Howard Hughes Medical Institute.[5] She is also a member of the board of directors of Regeneron Pharmaceuticals.[1] She also served on the Life Sciences jury for the Infosys Prize in 2014.

Research

In 1983, Zoghbi learnt of Rett syndrome from Bengt Hagberg's account in Annals of Neurology. The paper allowed Zoghbi to diagnose a five-year-old she treated at Texas Children's Hospital, and a week later she saw another patient with the same set of symptoms. When she investigated medical records, she found more cases of Rett syndrome that had been misdiagnosed. This sparked her interest in Rett syndrome, at a time when there was no report of the disease in the US.[3] An article she published in 1985[15] attracted many Rett syndrome patients to Texas Children's Hospital, giving her access to a large number of cases.[16]

Since most patients of Rett syndrome were girls, and symptoms were very consistent across patients, Zoghbi believed genetics were involved in the disease process.[3] This led her to join Arthur Beaudet's group in 1985, after finishing her term as a postdoctoral researcher, for training in genetics and molecular biology.[13] Beaudet advised against Rett syndrome as her research project since its mode of inheritance was still not obvious, and recommended a more approachable problem – spinocerebellar ataxia type 1, a dominantly inherited neurological disorder. In 1988, Zoghbi left Beaudet's group and founded her own lab at Baylor.[11] In addition to her research on spinocerebellar ataxia type 1 and Rett syndrome, Zoghbi is participating in a joint research collaboration into CDKL5 Deficiency Disorder, funded by the Loulou Foundation, Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children's Hospital[17]

Spinocerebellar ataxia type 1

Following the establishment of her own lab, Zoghbi continued studying spinocerebellar ataxia type 1 (SCA1), in collaboration with Harry Orr from the University of Minnesota.[18] On the same day, 8 April 1993, both Zoghbi and Orr identified ATXN1 as the gene responsible for SCA1.[13] They determined that the disease was caused by an expansion of the glutamine-encoding CAG trinucleotide repeat in this gene, and that the younger the age of onset, the longer the CAG repeat.[19] Further work by Zoghbi, Orr and their teams demonstrated that the misfolding, aggregation, and proteasomal degradation of the protein product of this gene, Ataxin 1, played a role in the disorder.[20]

Math1

After solving the etiology of spinocerebellar ataxia type 1, Zoghbi began studying animal genes related to balance. As Baylor's Hugo J. Bellen described the role of the atonal gene in balance in fruit flies, Zoghbi chose to study its mammalian homolog. A member of her lab successfully cloned the mouse homolog, Math1, in 1996.[21] Her team went on to find that, in addition to its involvement in balance and coordination, Math1 is also crucial to hearing,[22] the formation of secretory cells in the gut.[23], and neonatal respiratory rhythm and chemosensitivity in the adult brain by regulating the development of a group of hindbrain neurons.[24] Her lab has also shown that aberrant activation of Math1 could lead to medulloblastoma, a common childhood brain tumor, and that mice which did not express Math1, did not develop the tumor.[25]

Rett syndrome

Ever since Zoghbi was introduced to

brain cells.[13] In the paper, she and her team demonstrated that Rett syndrome was an X-linked dominant disorder, meaning that when 1 of the 2 copies of the MECP2 gene is abnormal, Rett syndrome will result.[12]

Zoghbi's team keeps studying MECP2, and discovered in 2004 that overexpressing the protein in mouse led to an

neurons was sufficient to rescue some symptoms of Rett syndrome.[31]

Ataxin-1 link to Alzheimer's

After linking the gene Ataxin-1 to SCA1, Zoghbi's lab was approached by Dr. Jaehong Suh of the Massachusetts General Hospital's MassGeneral Institute for Neurodegenerative Disease to investigate the connection between ataxin-1 gene and Alzheimer's disease.[32] The subsequent study found that loss of ataxin-1 elevates BACE1 expression and Aβ pathology in mouse models, rendering it a potential contributor to risk and pathogenesis of Alzheimer's disease.[33]

Awards and honors

Personal life

Zoghbi met her husband, William Zoghbi when they were medical students in the American University of Beirut. In 1977, she continued her medical school study in Meharry Medical College, and William transferred to Meharry next year. They both had their residencies in the Baylor College of Medicine after graduation. They married in 1980 and have 2 children.[4] William is the chief of the Department of Cardiology at Houston Methodist Hospital.[50]

References

  1. ^ a b "Huda Y. Zoghbi, M.D." Regeneron Pharmaceuticals. Archived from the original on 23 February 2019. Retrieved 13 December 2018.
  2. Washington Post. Retrieved 13 December 2018.[dead link
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  3. ^ a b c d Azvolinsky, Anna (1 November 2018). "Genetic Neurologist: A Profile of Huda Zoghbi". The Scientist. Archived from the original on 17 December 2019. Retrieved 13 December 2018.
  4. ^ a b Zoghbi, Huda Y. (27 September 2016). "Autobiography of Huda Y Zoghbi". Shaw Prize Foundation. Archived from the original on 19 November 2018. Retrieved 13 December 2018.
  5. ^ a b c d e f g "Huda Yahya Zoghbi, M.D." Baylor College of Medicine. Archived from the original on 25 April 2019. Retrieved 13 December 2018.
  6. ^ "Jan and Dan Duncan Neurological Research Institute". Texas Children's Hospital. Archived from the original on 2021-01-24.
  7. ^ "EDITOR OF THE ANNUAL REVIEW OF NEUROSCIENCE - VOLUME 41, 2018". Annual Reviews. Archived from the original on 29 July 2021. Retrieved 29 July 2021.
  8. ^ "Profile of Huda Y. Zoghbi". Pnas.org. Archived from the original on 2021-01-28.
  9. ^ "American Academy of Arts and Sciences. Huda Zoghbi". Amacad.org. Archived from the original on 2021-01-28.
  10. ^ "Rockefeller University. Huda Zoghbi". Rockefeller.edu. Archived from the original on 2021-01-27.
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  12. ^ a b Ellen, Elliot (12 March 2018). "Women in science: Huda Zoghbi discovered the genetic basis of Rett syndrome". Jackson Laboratory. Archived from the original on 18 November 2018. Retrieved 13 December 2018.
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  14. ^ "Biographical Notes of Laureates". Shaw Prize Foundation. 31 May 2016. Archived from the original on 9 December 2018. Retrieved 13 December 2018.
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  16. ^ Zoghbi, Huda (9 February 2016). "Interview with Huda Zoghbi" (Interview). Interviewed by McMullen Darra. Texas Medical Center Women's History Project. Archived from the original on 3 June 2020. Retrieved 13 December 2018.
  17. ^ Gutierrez, Graciela (30 October 2019). "Research collaboration focuses on CDKL5 Deficiency Disorder". Baylor College of Medicine Research News. Archived from the original on 17 December 2019. Retrieved 7 March 2020.
  18. from the original on 2022-04-08. Retrieved 2021-09-01.
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  33. PMID 31442405
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  34. ^ Kavli Prize 2022
  35. ^ "The Brain Prize Winners". Archived from the original on 13 May 2020. Retrieved 29 April 2020.
  36. ^ "2019 ASHG Award Recipients | ASHG". www.ashg.org. Archived from the original on 25 July 2019. Retrieved 25 July 2019.
  37. ^ "Dr. Huda Y. Zoghbi". American Academy of Arts and Sciences. Archived from the original on 6 December 2018. Retrieved 14 December 2018.
  38. Feinstein Institute for Medical Research. 8 March 2018. Archived
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  40. ^ "Breakthrough Prize Life Sciences Laureates 2017". Break Prize Foundation. Archived from the original on 28 April 2021. Retrieved 14 December 2018.
  41. Gairdner Foundation. Archived
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  42. ^ "Jessie Stevenson Kovalenko Medal". National Academy of Sciences. Archived from the original on 27 May 2016. Retrieved 14 December 2018.
  43. ^ a b "Huda Yahya Zoghbi". Virtually Integrated Institutions for Clinical and Translational Research. Archived from the original on 21 October 2020. Retrieved 14 December 2018.
  44. ^ "Yale awards 12 honorary degrees at 2014 graduation". Yale University. 19 May 2014. Archived from the original on 12 March 2019. Retrieved 14 December 2018.
  45. ^ Jennings, Charles (4 March 2014). "McGovern Institute to honor neurogenetics researcher Huda Zoghbi". McGovern Institute for Brain Research. Archived from the original on 21 February 2017. Retrieved 14 December 2018.
  46. ^ "Texas Children's Hospital Neuroscientist Dr. Huda Zoghbi Receives 2011 Legacy Award from The Brookwood Community". Texas Children's Hospital. Archived from the original on 15 December 2018. Retrieved 14 December 2018.
  47. ^ "Cathedra Laboris". University of Monterrey. Archived from the original on 13 September 2017. Retrieved 12 September 2017.
  48. ^ "Baylor College scientist wins Perl-UNC Neuroscience Prize". University of North Carolina at Chapel Hill. 20 May 2008. Archived from the original on 2 May 2019. Retrieved 14 December 2018.
  49. ^ "Arab Students' Organization hosts awards". Massachusetts Institute of Technology. 12 April 2007. Archived from the original on 27 August 2020. Retrieved 3 December 2018.
  50. ^ "William A. Zoghbi, MD, FASE, FAHA, MACC". Houston Methodist Hospital. Archived from the original on 4 June 2019. Retrieved 14 December 2018.

External links